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Article

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.

Archives of neurology - 1 Feb 2000

Bidichandani S I, Garcia C A, Patel P I, Dimachkie M M

Abstract excerpt

BACKGROUND: Most patients with Friedreich ataxia (FRDA) have abnormal GAA triplet repeat expansions in both X25 genes. The size of the GAA expansion in the shorter of the 2 expanded alleles correlates significantly with parameters of clinical severity and is inversely related to the age at onset. OBJECTIVES: To describe the clinical and molecular genetic findings in a patient with very late-onset FRDA and to...

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Source

Identifiers

PMID: 10681084
DOI: 10.1001/archneur.57.2.246

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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